STAT5B, signal transducer and activator of transcription 5B, 6777
N. diseases: 357; N. variants: 14
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. | 22419735 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. | 15827093 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Growth hormone insensitivity associated with a STAT5b mutation. | 13679528 | 2003 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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A | 0.700 | GeneticVariation | GWASCAT | Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. | 31036433 | 2019 | ||||||
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A | 0.700 | GeneticVariation | GWASCAT | Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. | 30575882 | 2018 | ||||||
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A | 0.700 | GeneticVariation | GWASCAT | Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. | 29083406 | 2017 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. | 16787985 | 2006 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR |